Varaico: Literature-Extracted Genetic Variants

Gene:DCTN5
Variant:p.E94*

DCTN5

153 papers

RefSeq Summary

This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomple...

Pfam Domains

DCTN5aa 1–182UCSCDynactin subunit 5

Gene Aliases

HGNC Name

dynactin subunit 5

HGNC Alias Symbols

MGC3248; p25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032486.4
p.E94*
c.280G>T
Surrounding Variants
1 paper
NM_032486.4
p.I93T
c.278T>C
1 paper
NM_032486.4
p.I93L
c.277A>C
1 paper
NM_032486.4
p.C97*
c.291T>A
1 paper
NM_032486.4
p.D89D
c.267C>T
1 paper
NM_032486.4
p.V108I
c.322G>A
1 paper
NM_032486.4
p.K112K
c.336G>A
1 paper
NM_032486.4
p.V115M
c.343G>A
1 paper
NM_032486.4
p.I116N
c.347T>A
1 paper
NM_032486.4
p.G79Splc
c.236+1G>A
1 paper
NM_032486.4
p.F73I
c.217T>A
1 paper
NM_032486.4
p.S67insFs
c.200_201insA
1 paper
NM_032486.4
p.V63E
c.188T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."